Sequencing for a HUPRA syndrome patient and his family
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https://www.ncbi.nlm.nih.gov/bioproject/PRJNA915330
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资源简介：
Hyperuricemia, pulmonary hypertension, and renal failure in infancy and alkalosis syndrome (HUPRA syndrome) is an ultrarare mitochondrial disease that is characterized by hyperuricemia, pulmonary hypertension, renal failure and alkalosis. In this patient, whole-exome sequencing revealed novel compound heterozygous variants of SARS2 (c.1205G>A (p.Arg402His) and c.680G>A (p.Arg227Gln)).
创建时间：
2022-12-23
